Ataxia and Disequilibrium
نویسندگان
چکیده
منابع مشابه
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4
Background Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMR...
متن کاملAdditional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
The gene for Friedreich ataxia (FA), a severe recessive neurodegenerative disease, has previously been shown to be tightly linked to the polymorphic markers D9S15 and D9S5 on human chromosome 9. In addition, the observation of linkage disequilibrium suggested that D9S15 is within 1 centimorgan (cM) of the disease locus, FRDA. Although D9S5 did not show recombination with FRDA, its localization ...
متن کاملHomozygosity and linkage disequilibrium.
We illustrate how homozygosity of haplotypes can be used to measure the level of disequilibrium between two or more markers. An excess of either homozygosity or heterozygosity signals a departure from the gametic phase equilibrium: We describe the specific form of dependence that is associated with high (low) homozygosity and derive various linkage disequilibrium measures. They feature a clear ...
متن کاملDisequilibrium Economics and Development
The history of Economic Theory shows in several stages the influence of Thermodynamics. The analogies between economic systems and thermodynamic systems are at the same time quite obvious and misleading. Important thermodynamic notions lack of counterparts in Economics, making the goal of transferring concepts -other than the trivial analoguesfrom one discipline to the other an epistemological ...
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ژورنال
عنوان ژورنال: Practica Oto-Rhino-Laryngologica
سال: 1981
ISSN: 1884-4545,0032-6313
DOI: 10.5631/jibirin.74.7special_1647